Genetic testing and the nature of beauty

Dr. VanceConsiderable professional information and guidance accompany genetic testing, which is interpreted by a pathologist whose entire career is based on accuracy and quality.

HOW much you know about your family can be important for more than just sentimental reasons.

Family history is a crucial factor in a decision about genetic testing, explains Gail H. Vance, M.D., FCAP, a fellow of the College of American Pathologists.

She points out that the decisions made by actress Angelina Jolie to have her breasts and ovaries removed is one “women have really taken to heart.”

Jolie wasn’t diagnosed with breast or ovarian cancer. The surgeries were personal decisions based on the discovery that she is a carrier of a mutated version of the BRCA1 gene.

“Here’s a woman who is phenomenal, gorgeous, married to a gorgeous man and, in the opinion of many women, she has hit the jackpot several times over,” Dr. Vance says. “And all of a sudden, we realize that she’s plagued with a genetic malady that causes her to proceed with prophylactic mastectomy and subsequently the oophorectomy.”

Dr. Vance believes that Jolie has shown women they can still be beautiful after these surgeries. “She had this remarkable decision to make and went through surgery. She didn’t lose her stature or her fame. Life went on,” says Dr. Vance. “She did it and came out in fine shape.”

Genetic testing isn’t for everyone. Breast cancer is a common disorder, says Dr. Vance, affecting one of every eight women, on average. But only 5 to 10 percent of all breast cancer cases are the result of genetic—or hereditary—factors. A decision to have genetic testing may largely depend on a patient’s family history. The fact that Jolie’s mother died from ovarian cancer was a good reason for Jolie to be tested.

Detailed familial knowledge is crucial. A patient is often asked to construct a “pedigree,” with the histories of at least three generations on both sides. The more documentation, the better, she advises.

In addition, Dr. Vance warns, not all health insurance carriers always cover genetic testing. Your family history may play into the insurance company’s decision to cover the cost of the test.

You can get further facts from the experts at the College of American Pathologists (CAP), which fosters and advocates excellence in the practice of pathology and laboratory medicine, at www.cap.org and on Twitter: @pathologists.

• Dr. Vance is the Sutphin Professor of Cancer Genetics and interim chairperson of the Department of Medical and Molecular Genetics at the Indiana University School of Medicine.